Značaj hrvatske banke genoma i združene analize genoma u klasifikaciji uzročne varijante na primjeru djeteta sa spinocerebelarnom ataksijom

master's thesis

• Title (english): Significance of the Croatian genome bank and joint analysis in the classification of the causal variant in a child with spinocerebellar ataxia
• Author: Anđela Šimunović
• Mentor: Mario Ćuk (mentor)
• Committee member: Danijela Petković-Ramadža (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Mario Ćuk (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; Zagreb
• Defense date and country: 2024-07-12, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Ovaj pregledni rad omogućava uvid u izniman projekt koji za cilj ima uvesti genomsku medicinu u hrvatsku pedijatriju kako bi se unaprijedili prevencija, dijagnostika i terapija bolesti. CROseq-GenomeBank, prva hrvatska banka genoma, projekt je sekvenciranja genoma djece koja boluju od nedijagnosticiranih bolesti i njihovih obitelji. Preciznom združenom analizom genoma stvaraju se baze podataka. Na početku ovog rada prikazani su ciljevi, metode i analize stvaranja dviju baza hrvatske banke genoma (Genoma i FeGena), a zatim i sam postupak za uključivanje u projekt. Značaj ovog projekta važan je za poboljšanu prevenciju i liječenje rijetkih bolesti jer pruža uvid u ciljanu terapiju i preventivne strategije koje se temelje na genomskim podacima. Osim toga, važnost je i u napredovanju znanstvenih istraživanja te u unapređenju javnog zdravlja primjenom genomskih istraživanja u javnozdravstvenim politikama s ciljem boljeg ishoda liječenja genetski uvjetovanih bolesti. Prethodno navedeni ciljevi projekta prikazani su na primjeru reklasifikacije uzročne varijante u djeteta s dijagnozom spinocerebelarne ataksije. Korištenjem združene genomske analize i podataka prve hrvatske banke genoma, identificirana je specifična genomska varijanta u podlozi ove rijetke neurodegenerativne bolesti. Ova precizna genetička dijagnoza omogućila je potvrdu kliničke dijagnoze i koncipiranje individualiziranog terapijskog plana prilagođenog specifičnim potrebama djeteta.

Abstract (english)

This review provides insight into an exceptional project aimed at integrating genomic medicine into Croatian pediatrics to advance the prevention, diagnosis, and treatment of diseases. CROseq-GenomeBank, the first Croatian genome bank, is a genome sequencing project for children suffering from undiagnosed diseases and their families. High-precision joint genome analysis is used to create databases. This paper initially presents the goals, methods, and analyses involved in forming the two databases of the Croatian genome bank (Genoma and FeGena), followed by the procedure for inclusion in the project. The significance of this project is crucial for improved prevention and treatment of rare diseases as it provides insight into targeted therapies and preventive strategies based on genomic data. Moreover, its importance extends to advancing scientific research and improving public health by incorporating genomic research into public health policies to achieve better outcomes in the treatment of genetically determined diseases. The stated project goals are illustrated by the example of reclassifying a causal variant in a child diagnosed with spinocerebellar ataxia. Using combined genomic analysis and data from the first Croatian genome bank, a specific genomic variant underlying this rare neurodegenerative disease was identified. This precise genetic diagnosis facilitated the confirmation of the clinical diagnosis and the development of an individualized therapeutic plan tailored to the child's specific needs.

• Keywords: cjelogenomsko sekvenciranje; CROseq-GenomeBank; spinocerebelarna ataksija
• Keywords (english): whole genome sequencing (WGS); CROseq-GenomeBank; spinocerebellar ataxia
• Language: croatian
• URN:NBN: urn:nbn:hr:105:406410
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2024-07-02 09:35:51